Ehlers Danlos Syndrome

by | Dec 15, 2022 | Ehlers Danlos Syndrome | 0 comments

Diagnosis Number One: Christopher at 2 with EDS

My story with multiple diagnoses begins in 1988 with my son, Christopher, who was 2 at the time. He’s the cute little guy in the photo, although I’m clearly biased. We can thank Christopher for our first diagnosis of Ehlers Danlos syndrome or EDS.

By this time, I had the misfortune of having 17-foot surgeries trying to correct my foot pain. My daughter, Carrie, who is 6 years older, had experienced several elbow dislocations, explained as “nursemaid’s elbow. It was Christopher’s pediatrician who decided he was requiring a further workup.

Christopher’s patellas (knee caps) would slide off when he walked, and he’d fall. His pediatrician had shown me how to gently slide them back. His elbows dislocated too… a lot! So, she sent us to a local orthopedic surgeon and luckily for us, he was very astute in connective tissue diseases. After examining my son, he asked to look at my eyes. I thought he was a bit crazy but apparently my sclera (whites of my eyes) were bluish which indicated I may have defective connective tissue too.

This orthopedic surgeon referred us to what was then called The Hospital for Joint Diseases in New York city that later became NYU Langone Orthopedic Hospital.

We live in upstate NY, so we made the long drive to the city with a 2- and 8-year-old. All three of us were seen by an orthopedic surgeon, geneticist, and rheumatologist. We had many X-rays, blood tests and a physical exam. Back in 1988, the testing was very different than it is now.

After hours of testing, we all met in a consultation room, getting the news that we all had a connective tissue disorder called Ehlers Danlos syndrome type III. There was very little education about it at the time. Instructions: we’re hypermobile, needed to protect our joints, no contact sports, annual echocardiograms to monitor our heart valves and good luck.

We left the city for the long drive home. Now what? Upon returning home, I looked online and found The National Ehlers Danlos Foundation, now called the Ehlers Danlos Society. Joining immediately, (https://www.ehlers-danlos.com/) I read every piece of information they shared. Their information helped me to understand how to better manage our care.

In 2017, new diagnostic criteria was established, making it easier for all physicians to determine if patients have hypermobile EDS or HSD, hypermobility spectrum disorder. This is the most common type of EDS, although there are several other types that can be identified by genetic testing. Here is a link to the checklist for hEDS that anyone can use to determine if they potentially have hypermobile EDS:

https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf

That 2-year-old little boy is now a 6” strong man, working in a physically active career. Carrie is a grown woman who has had some added diagnoses too. As you continue to read my blog, you’ll see female hormones play into this story. Till next time…

 

 About Author Jan Hempstead

My name is Jan Hempstead and I’m an RN, although I medically retired sooner than I would have liked because of my multiple diagnoses. I’m also a mom, wife, sister and friend.

This blog is my story about living well with Ehlers Danlos syndrome (EDS), rheumatoid arthritis (RA), mast cell activation syndrome (MCAS), chronic kidney disease (CKD), hereditary alpha tryptasemia (HaT), dysautonomia and Sjogren’s Syndrome (SS).

I started out with EDS and one by one, another diagnosis kept getting added on. Come follow me as I share my journey with multiple specialists, what has worked and has not, and where I’m going next.

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